Canonical Allele Identifier: CA396769571

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74719086C>T , CM000678.2:g.74719086C>T	GRCh38
NC_000016.9:g.74752984C>T , CM000678.1:g.74752984C>T	GRCh37
NC_000016.8:g.73310485C>T	NCBI36
NG_017070.1:g.60746G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024306.5:c.688G>A MANE Select	NP_077282.3:p.Glu230Lys
ENST00000219368.8:c.688G>A MANE Select	ENSP00000219368.3:p.Glu230Lys
NM_024306.4:c.688G>A	NP_077282.3:p.Glu230Lys
ENST00000219368.7:c.688G>A	ENSP00000219368.3:p.Glu230Lys
ENST00000567683.5:c.438G>A	ENSP00000455126.1:p.Ser146=
ENST00000569949.1:c.490G>A	ENSP00000464576.1:p.Glu164Lys
XM_011523317.1:c.688G>A	XP_011521619.1:p.Glu230Lys
XM_011523317.3:c.688G>A	XP_011521619.1:p.Glu230Lys
XM_011523318.1:c.688G>A	XP_011521620.1:p.Glu230Lys
XM_011523319.1:c.448G>A	XP_011521621.1:p.Glu150Lys
XM_011523319.2:c.448G>A	XP_011521621.1:p.Glu150Lys